Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Guzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal Of Medical Genetics Part A 2007, 143A: 672-677. PMID: 17343267, DOI: 10.1002/ajmg.a.31640.Peer-Reviewed Original ResearchConceptsArachnoid cystCerebral anomaliesMental retardationAutosomal recessive inheritanceSeizure disorderNovel genetic syndromeCentrum semiovaleLack of mutationsPerivascular spacesWhite matterNew syndromeGenetic syndromesLissencephaly geneSyndromeCystsRecessive inheritancePachygyriaSeizuresConsanguineous familyRetardationNew phenotypesPatients